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Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
A rare genetic neurological disorder characterized by early-onset progressive leukoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anemia.
ORPHA:3240
Classification level: Disorder
- Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: No data available
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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